Androgen Insensitivity Syndrome

Common Name(s)

Androgen Insensitivity Syndrome, Androgen Resistance Syndrome

Androgen insensitivity syndrome is a condition that affects sexual development before birth and during puberty. People with this condition are genetically male, with one X chromosome and one Y chromosome in each cell. Because their bodies are unable to respond to certain male sex hormones (called androgens), they may have mostly female sex characteristics or signs of both male and female sexual development. There are three types of androgen insensitivity syndrome which vary in severity. There are different management options, so talk to your doctor about the best care plan if you or your child has been diagnosed with androgen insensitivity syndrome. For more information about the different types, please visit: mild androgen insensitivity syndrome; partial androgen insensitivity syndrome; or complete androgen insensitivity syndrome.

Androgen insensitivity syndrome is caused by mutations in the AR gene on the X chromosome. It is inherited (runs in families) as an X-linked recessive trait. Normally, we have two copies of every gene, one on a chromosome inherited from each of our birth parents. Recessive means that both copies of the gene must have the change which causes the condition. However, the sex chromosomes are different. A male has one X and one Y chromosome, whereas a female has two X chromosomes. So a male only has one copy of a gene on the X chromosome, and if this one copy has the mutation, he will have androgen insensitivity syndrome. Talk with a genetic counselor if you or a family member has been diagnosed with androgen insensitivity syndrome.

Source: Advocacy organizations associated with the condition.

 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Androgen Insensitivity Syndrome" for support, advocacy or research.

AIS-DSD Support Group

The AIS-DSD Support Group is a compassionate community of individuals, families and allies collaborating to promote better lives and informed decision-making through advancement of knowledge so no one will face a diagnosis alone.

Last Updated: 12 Jan 2015

View Details

 

General Support Organizations

Not finding the support you need? Show General Support Organizations

 
 
Top

How do you compare to others with this condition?

Privately answer questions about your health. Let resources, you select, come to you.

Anonymously share and see how your answers compare with others with this condition while privately providing key pieces of information to medical researchers, disease advocacy groups, and others ONLY YOU select to help speed up cures and better alternatives.

 
 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Androgen Insensitivity Syndrome" for support, advocacy or research.

AIS-DSD Support Group

The AIS-DSD Support Group is a compassionate community of individuals, families and allies collaborating to promote better lives and informed decision-making through advancement of knowledge so no one will face a diagnosis alone.

http://www.aisdsd.org

Last Updated: 12 Jan 2015

View Details

 

General Support Organizations

Not finding the support you need? Show General Support Organizations

 
 
 
 
Top

Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Androgen Insensitivity Syndrome" returned 70 free, full-text research articles on human participants. First 3 results:

A novel mutation of the androgen receptor gene in familial complete androgen insensitivity syndrome.
 

Author(s): Y Li, S Qu, P Li

Journal: Eur Rev Med Pharmacol Sci. 2015 Nov;19(21):4146-52.

 

Androgen insensitivity syndrome (AIS) is characterized by androgen receptor (AR) dysfunction. Its main characteristic is a female phenotype in an individual with a 46, XY karyotype. The molecular basis of this disorder was investigated in two individuals with familial AIS.

Last Updated: 23 Nov 2015

Go To URL
[Complete androgen insensitivity syndrome].
 

Author(s): Tančić Milina Gajić, Svetlana Vujović, Miomira Ivović, Ljiljana V Marina, Zorana Arizanović, Dragana Raković, Dragan Micić

Journal: Srp Arh Celok Lek. ;143(3-4):214-8.

 

Androgen insensitivity syndrome (AIS) belongs to disorders of sex development, resulting from complete or partial resistance to the biological actions of androgens in persons who are genetically males (XY) with normally developed testes and age-appropriate for males of serum testosterone ...

Last Updated: 27 May 2015

Go To URL
A novel insA2933 causes premature termination of translation and is accompanied by overexpression of truncated androgen receptor gene in a patient with complete androgen insensitivity syndrome.
 

Author(s): J Turek-Plewa, J B Starzyk, W H Trzeciak

Journal: J. Appl. Genet.. 2015 Nov;56(4):463-7.

 

A patient with a female phenotype, 46,XY karyotype, and a diagnosis of complete androgen insensitivity syndrome (CAIS) was examined. Her mother and three 46,XX sisters were also included in the study. Sequence analysis of the androgen receptor gene (AR) revealed a novel A2933 insertion ...

Last Updated: 27 Oct 2015

Go To URL

Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Androgen Insensitivity Syndrome" returned 7 free, full-text review articles on human participants. First 3 results:

[Complete androgen insensitivity syndrome: report of two cases and review of literature].
 

Author(s): Boutaina Lachiri, Ihssane Hakimi, Adil Boudhas, Khalid Guelzim, Jaouad Kouach, Mohamed Oukabli, Driss Moussaoui Rahali, Mohamed Dehayni

Journal:

 

Last Updated: 24 Aug 2015

Go To URL
Androgen insensitivity syndrome.
 

Author(s): Ieuan A Hughes, John D Davies, Trevor I Bunch, Vickie Pasterski, Kiki Mastroyannopoulou, Jane MacDougall

Journal: Lancet. 2012 Oct;380(9851):1419-28.

 

Androgen insensitivity syndrome in its complete form is a disorder of hormone resistance characterised by a female phenotype in an individual with an XY karyotype and testes producing age-appropriate normal concentrations of androgens. Pathogenesis is the result of mutations in the ...

Last Updated: 22 Oct 2012

Go To URL
Androgen insensitivity syndrome: clinical features and molecular defects.
 

Author(s): Angeliki Galani, Sophia Kitsiou-Tzeli, Christalena Sofokleous, Emmanuel Kanavakis, Ariadni Kalpini-Mavrou

Journal: Hormones (Athens). ;7(3):217-29.

 

The end-organ resistance to androgens has been designated as androgen insensitivity syndrome (AIS), an X-linked disorder caused by mutations in the androgen receptor (AR) gene. It is generally accepted that defects in the AR gene prevent the normal development of both internal and ...

Last Updated: 12 Aug 2008

Go To URL
 
 
Top

Symptoms, Diagnosis, and Treatment

There are currently no related results available in Genetics Home Reference.

 
 
Top

Clinical Trial Information This information is provided by ClinicalTrials.gov

There are currently no open clinical trials for this condition.